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Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

NPJ genomic medicine

Merico D, Pasternak Y, Zarrei M, Higginbotham EJ, Thiruvahindrapuram B, Scott O, Willett-Pachul J, Grunebaum E, Upton J, Atkinson A, Kim VHD, Aliyev E, Fakhro K, Scherer SW, Roifman CM.
PMID: 34795304
NPJ Genom Med. 2021 Nov 18;6(1):96. doi: 10.1038/s41525-021-00263-z.

In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by other genomics platforms, enabling the molecular diagnosis...

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Merico D, Pasternak Y, Zarrei M, et al. Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. NPJ Genom Med. 2021;6(1):96doi: 10.1038/s41525-021-00263-z.
Merico, D., Pasternak, Y., Zarrei, M., Higginbotham, E. J., Thiruvahindrapuram, B., Scott, O., Willett-Pachul, J., Grunebaum, E., Upton, J., Atkinson, A., Kim, V. H. D., Aliyev, E., Fakhro, K., Scherer, S. W., & Roifman, C. M. (2021). Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. NPJ genomic medicine, 6(1), 96. https://doi.org/10.1038/s41525-021-00263-z
Merico, Daniele, et al. "Homozygous duplication identified by whole genome sequencing causes LRBA deficiency." NPJ genomic medicine vol. 6,1 (2021): 96. doi: https://doi.org/10.1038/s41525-021-00263-z
Merico D, Pasternak Y, Zarrei M, Higginbotham EJ, Thiruvahindrapuram B, Scott O, Willett-Pachul J, Grunebaum E, Upton J, Atkinson A, Kim VHD, Aliyev E, Fakhro K, Scherer SW, Roifman CM. Homozygous duplication identified by whole genome sequencing causes LRBA deficiency. NPJ Genom Med. 2021 Nov 18;6(1):96. doi: 10.1038/s41525-021-00263-z. PMID: 34795304; PMCID: PMC8602677.
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Chorea-acanthocytosis: Homozygous 1-kb deletion in .

Neurology. Genetics

Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA.
PMID: 29845114
Neurol Genet. 2018 May 18;4(3):e242. doi: 10.1212/NXG.0000000000000242. eCollection 2018 Jun.

No abstract available.

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Walker S, Dad R, Thiruvahindrapuram B, et al. Chorea-acanthocytosis: Homozygous 1-kb deletion in . Neurol Genet. 2018;4(3):e242doi: 10.1212/NXG.0000000000000242.
Walker, S., Dad, R., Thiruvahindrapuram, B., Ullah, M. I., Ahmad, A., Hassan, M. J., Scherer, S. W., & Minassian, B. A. (2018). Chorea-acanthocytosis: Homozygous 1-kb deletion in . Neurology. Genetics, 4(3), e242. https://doi.org/10.1212/NXG.0000000000000242
Walker, Susan, et al. "Chorea-acanthocytosis: Homozygous 1-kb deletion in ." Neurology. Genetics vol. 4,3 (2018): e242. doi: https://doi.org/10.1212/NXG.0000000000000242
Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA. Chorea-acanthocytosis: Homozygous 1-kb deletion in . Neurol Genet. 2018 May 18;4(3):e242. doi: 10.1212/NXG.0000000000000242. eCollection 2018 Jun. PMID: 29845114; PMCID: PMC5961193.
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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

NPJ genomic medicine

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.
PMID: 28567303
NPJ Genom Med. 2016 Jan 13;1. doi: 10.1038/npjgenmed.2015.12.

The standard of care for first-tier clinical investigation of the etiology of congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy number variations (CNVs), often followed by gene(s)-specific sequencing searching for smaller insertion-deletions (indels) and single...

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Stavropoulos DJ, Merico D, Jobling R, et al. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016;1doi: 10.1038/npjgenmed.2015.12.
Stavropoulos, D. J., Merico, D., Jobling, R., Bowdin, S., Monfared, N., Thiruvahindrapuram, B., Nalpathamkalam, T., Pellecchia, G., Yuen, R. K. C., Szego, M. J., Hayeems, R. Z., Shaul, R. Z., Brudno, M., Girdea, M., Frey, B., Alipanahi, B., Ahmed, S., Babul-Hirji, R., Porras, R. B., Carter, M. T., Chad, L., Chaudhry, A., Chitayat, D., Doust, S. J., Cytrynbaum, C., Dupuis, L., Ejaz, R., Fishman, L., Guerin, A., Hashemi, B., Helal, M., Hewson, S., Inbar-Feigenberg, M., Kannu, P., Karp, N., Kim, R., Kronick, J., Liston, E., MacDonald, H., Mercimek-Mahmutoglu, S., Mendoza-Londono, R., Nasr, E., Nimmo, G., Parkinson, N., Quercia, N., Raiman, J., Roifman, M., Schulze, A., Shugar, A., Shuman, C., Sinajon, P., Siriwardena, K., Weksberg, R., Yoon, G., Carew, C., Erickson, R., Leach, R. A., Klein, R., Ray, P. N., Meyn, M. S., Scherer, S. W., Cohn, R. D., & Marshall, C. R. (2016). Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ genomic medicine, 1. https://doi.org/10.1038/npjgenmed.2015.12
Stavropoulos, Dimitri J, et al. "Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine." NPJ genomic medicine vol. 1 (2016). doi: https://doi.org/10.1038/npjgenmed.2015.12
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016 Jan 13;1. doi: 10.1038/npjgenmed.2015.12. PMID: 28567303; PMCID: PMC5447450.
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A homozygous mutation in the stem II domain of .

NPJ genomic medicine

Dinur Schejter Y, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM.
PMID: 29263834
NPJ Genom Med. 2017 Jul 10;2:23. doi: 10.1038/s41525-017-0024-5. eCollection 2017.

Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the

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Dinur Schejter Y, Ovadia A, Alexandrova R, et al. A homozygous mutation in the stem II domain of . NPJ Genom Med. 2017;2:23doi: 10.1038/s41525-017-0024-5.
Dinur Schejter, Y., Ovadia, A., Alexandrova, R., Thiruvahindrapuram, B., Pereira, S. L., Manson, D. E., Vincent, A., Merico, D., & Roifman, C. M. (2017). A homozygous mutation in the stem II domain of . NPJ genomic medicine, 223. https://doi.org/10.1038/s41525-017-0024-5
Dinur Schejter, Yael, et al. "A homozygous mutation in the stem II domain of ." NPJ genomic medicine vol. 2 (2017): 23. doi: https://doi.org/10.1038/s41525-017-0024-5
Dinur Schejter Y, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM. A homozygous mutation in the stem II domain of . NPJ Genom Med. 2017 Jul 10;2:23. doi: 10.1038/s41525-017-0024-5. eCollection 2017. PMID: 29263834; PMCID: PMC5677950.
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Genome-wide characteristics of .

NPJ genomic medicine

Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW.
PMID: 27525107
NPJ Genom Med. 2016 Aug 03;1:160271-1602710. doi: 10.1038/npjgenmed.2016.27.

No abstract available.

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Yuen RK, Merico D, Cao H, et al. Genome-wide characteristics of . NPJ Genom Med. 2016;1:160271-1602710doi: 10.1038/npjgenmed.2016.27.
Yuen, R. K., Merico, D., Cao, H., Pellecchia, G., Alipanahi, B., Thiruvahindrapuram, B., Tong, X., Sun, Y., Cao, D., Zhang, T., Wu, X., Jin, X., Zhou, Z., Liu, X., Nalpathamkalam, T., Walker, S., Howe, J. L., Wang, Z., MacDonald, J. R., Chan, A., D'Abate, L., Deneault, E., Siu, M. T., Tammimies, K., Uddin, M., Zarrei, M., Wang, M., Li, Y., Wang, J., Wang, J., Yang, H., Bookman, M., Bingham, J., Gross, S. S., Loy, D., Pletcher, M., Marshall, C. R., Anagnostou, E., Zwaigenbaum, L., Weksberg, R., Fernandez, B. A., Roberts, W., Szatmari, P., Glazer, D., Frey, B. J., Ring, R. H., Xu, X., & Scherer, S. W. (2016). Genome-wide characteristics of . NPJ genomic medicine, 1160271-1602710. https://doi.org/10.1038/npjgenmed.2016.27
Yuen, Ryan K C, et al. "Genome-wide characteristics of ." NPJ genomic medicine vol. 1 (2016): 160271-1602710. doi: https://doi.org/10.1038/npjgenmed.2016.27
Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW. Genome-wide characteristics of . NPJ Genom Med. 2016 Aug 03;1:160271-1602710. doi: 10.1038/npjgenmed.2016.27. PMID: 27525107; PMCID: PMC4980121.
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Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population.

Data in brief

Frenkel S, Bernstein CN, Jin YW, Sargent M, Kuang Q, Jiang W, Wei J, Thiruvahindrapuram B, Scherer SW, Hu P.
PMID: 31338399
Data Brief. 2019 Jul 02;25:104203. doi: 10.1016/j.dib.2019.104203. eCollection 2019 Aug.

Genome-wide copy-number association studies offer new opportunities to identify the mechanisms underlying complex diseases, including chronic inflammatory, psychiatric disorders and others. We have used genotyping microarrays to analyse the copy-number variants (CNVs) from 243 Caucasian individuals with Inflammatory Bowel...

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Frenkel S, Bernstein CN, Jin YW, et al. Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population. Data Brief. 2019;25:104203doi: 10.1016/j.dib.2019.104203.
Frenkel, S., Bernstein, C. N., Jin, Y. W., Sargent, M., Kuang, Q., Jiang, W., Wei, J., Thiruvahindrapuram, B., Scherer, S. W., & Hu, P. (2019). Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population. Data in brief, 25104203. https://doi.org/10.1016/j.dib.2019.104203
Frenkel, Svetlana, et al. "Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population." Data in brief vol. 25 (2019): 104203. doi: https://doi.org/10.1016/j.dib.2019.104203
Frenkel S, Bernstein CN, Jin YW, Sargent M, Kuang Q, Jiang W, Wei J, Thiruvahindrapuram B, Scherer SW, Hu P. Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population. Data Brief. 2019 Jul 02;25:104203. doi: 10.1016/j.dib.2019.104203. eCollection 2019 Aug. PMID: 31338399; PMCID: PMC6626884.
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Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

NPJ genomic medicine

Dale B, Modi BM, Jilderda S, McConnell B, Hoang N, Swaroop P, Falcon J, Thiruvahindrapuram B, Walker S, Scherer SW, Stavropoulos DJ, Drmic IE, Carter MT.
PMID: 29263838
NPJ Genom Med. 2017 Sep 28;2:28. doi: 10.1038/s41525-017-0031-6. eCollection 2017.

Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insight into dosage-sensitivity of...

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Dale B, Modi BM, Jilderda S, et al. Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage. NPJ Genom Med. 2017;2:28doi: 10.1038/s41525-017-0031-6.
Dale, B., Modi, B. M., Jilderda, S., McConnell, B., Hoang, N., Swaroop, P., Falcon, J., Thiruvahindrapuram, B., Walker, S., Scherer, S. W., Stavropoulos, D. J., Drmic, I. E., & Carter, M. T. (2017). Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage. NPJ genomic medicine, 228. https://doi.org/10.1038/s41525-017-0031-6
Dale, Breanne, et al. "Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage." NPJ genomic medicine vol. 2 (2017): 28. doi: https://doi.org/10.1038/s41525-017-0031-6
Dale B, Modi BM, Jilderda S, McConnell B, Hoang N, Swaroop P, Falcon J, Thiruvahindrapuram B, Walker S, Scherer SW, Stavropoulos DJ, Drmic IE, Carter MT. Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage. NPJ Genom Med. 2017 Sep 28;2:28. doi: 10.1038/s41525-017-0031-6. eCollection 2017. PMID: 29263838; PMCID: PMC5677976.
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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.

Molecular autism

Correia CT, Conceição IC, Oliveira B, Coelho J, Sousa I, Sequeira AF, Almeida J, Café C, Duque F, Mouga S, Roberts W, Gao K, Lowe JK, Thiruvahindrapuram B, Walker S, Marshall CR, Pinto D, Nurnberger JI, Scherer SW, Geschwind DH, Oliveira G, Vicente AM.
PMID: 24720851
Mol Autism. 2014 Apr 10;5(1):28. doi: 10.1186/2040-2392-5-28.

BACKGROUND: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication...

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Correia CT, Conceição IC, Oliveira B, et al. Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Mol Autism. 2014;5(1):28doi: 10.1186/2040-2392-5-28.
Correia, C. T., Conceição, I. C., Oliveira, B., Coelho, J., Sousa, I., Sequeira, A. F., Almeida, J., Café, C., Duque, F., Mouga, S., Roberts, W., Gao, K., Lowe, J. K., Thiruvahindrapuram, B., Walker, S., Marshall, C. R., Pinto, D., Nurnberger, J. I., Scherer, S. W., Geschwind, D. H., Oliveira, G., & Vicente, A. M. (2014). Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Molecular autism, 5(1), 28. https://doi.org/10.1186/2040-2392-5-28
Correia, Catarina T, et al. "Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders." Molecular autism vol. 5,1 (2014): 28. doi: https://doi.org/10.1186/2040-2392-5-28
Correia CT, Conceição IC, Oliveira B, Coelho J, Sousa I, Sequeira AF, Almeida J, Café C, Duque F, Mouga S, Roberts W, Gao K, Lowe JK, Thiruvahindrapuram B, Walker S, Marshall CR, Pinto D, Nurnberger JI, Scherer SW, Geschwind DH, Oliveira G, Vicente AM. Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Mol Autism. 2014 Apr 10;5(1):28. doi: 10.1186/2040-2392-5-28. PMID: 24720851; PMCID: PMC4098665.
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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Stem cell reports

Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW.
PMID: 30759379
Stem Cell Reports. 2019 Feb 12;12(2):427-429. doi: 10.1016/j.stemcr.2019.01.008.

No abstract available.

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Deneault E, White SH, Rodrigues DC, et al. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 2019;12(2):427-429doi: 10.1016/j.stemcr.2019.01.008.
Deneault, E., White, S. H., Rodrigues, D. C., Ross, P. J., Faheem, M., Zaslavsky, K., Wang, Z., Alexandrova, R., Pellecchia, G., Wei, W., Piekna, A., Kaur, G., Howe, J. L., Kwan, V., Thiruvahindrapuram, B., Walker, S., Lionel, A. C., Pasceri, P., Merico, D., Yuen, R. K. C., Singh, K. K., Ellis, J., & Scherer, S. W. (2019). Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem cell reports, 12(2), 427-429. https://doi.org/10.1016/j.stemcr.2019.01.008
Deneault, Eric, et al. "Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons." Stem cell reports vol. 12,2 (2019): 427-429. doi: https://doi.org/10.1016/j.stemcr.2019.01.008
Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 2019 Feb 12;12(2):427-429. doi: 10.1016/j.stemcr.2019.01.008. PMID: 30759379; PMCID: PMC6373432.
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A large data resource of genomic copy number variation across neurodevelopmental disorders.

NPJ genomic medicine

Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW.
PMID: 31602316
NPJ Genom Med. 2019 Oct 07;4:26. doi: 10.1038/s41525-019-0098-3. eCollection 2019.

Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV analysis across autism spectrum...

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Zarrei M, Burton CL, Engchuan W, et al. A large data resource of genomic copy number variation across neurodevelopmental disorders. NPJ Genom Med. 2019;4:26doi: 10.1038/s41525-019-0098-3.
Zarrei, M., Burton, C. L., Engchuan, W., Young, E. J., Higginbotham, E. J., MacDonald, J. R., Trost, B., Chan, A. J. S., Walker, S., Lamoureux, S., Heung, T., Mojarad, B. A., Kellam, B., Paton, T., Faheem, M., Miron, K., Lu, C., Wang, T., Samler, K., Wang, X., Costain, G., Hoang, N., Pellecchia, G., Wei, J., Patel, R. V., Thiruvahindrapuram, B., Roifman, M., Merico, D., Goodale, T., Drmic, I., Speevak, M., Howe, J. L., Yuen, R. K. C., Buchanan, J. A., Vorstman, J. A. S., Marshall, C. R., Wintle, R. F., Rosenberg, D. R., Hanna, G. L., Woodbury-Smith, M., Cytrynbaum, C., Zwaigenbaum, L., Elsabbagh, M., Flanagan, J., Fernandez, B. A., Carter, M. T., Szatmari, P., Roberts, W., Lerch, J., Liu, X., Nicolson, R., Georgiades, S., Weksberg, R., Arnold, P. D., Bassett, A. S., Crosbie, J., Schachar, R., Stavropoulos, D. J., Anagnostou, E., & Scherer, S. W. (2019). A large data resource of genomic copy number variation across neurodevelopmental disorders. NPJ genomic medicine, 426. https://doi.org/10.1038/s41525-019-0098-3
Zarrei, Mehdi, et al. "A large data resource of genomic copy number variation across neurodevelopmental disorders." NPJ genomic medicine vol. 4 (2019): 26. doi: https://doi.org/10.1038/s41525-019-0098-3
Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW. A large data resource of genomic copy number variation across neurodevelopmental disorders. NPJ Genom Med. 2019 Oct 07;4:26. doi: 10.1038/s41525-019-0098-3. eCollection 2019. PMID: 31602316; PMCID: PMC6779875.
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Copy number variation in Han Chinese individuals with autism spectrum disorder.

Journal of neurodevelopmental disorders

Gazzellone MJ, Zhou X, Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, Sun C, Wang J, Zou M, Tammimies K, Walker S, Selvanayagam T, Wei J, Wang Z, Wu L, Scherer SW.
PMID: 25170348
J Neurodev Disord. 2014;6(1):34. doi: 10.1186/1866-1955-6-34. Epub 2014 Aug 23.

BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (

Cite
Gazzellone MJ, Zhou X, Lionel AC, et al. Copy number variation in Han Chinese individuals with autism spectrum disorder. J Neurodev Disord. 2014;6(1):34doi: 10.1186/1866-1955-6-34.
Gazzellone, M. J., Zhou, X., Lionel, A. C., Uddin, M., Thiruvahindrapuram, B., Liang, S., Sun, C., Wang, J., Zou, M., Tammimies, K., Walker, S., Selvanayagam, T., Wei, J., Wang, Z., Wu, L., & Scherer, S. W. (2014). Copy number variation in Han Chinese individuals with autism spectrum disorder. Journal of neurodevelopmental disorders, 6(1), 34. https://doi.org/10.1186/1866-1955-6-34
Gazzellone, Matthew J, et al. "Copy number variation in Han Chinese individuals with autism spectrum disorder." Journal of neurodevelopmental disorders vol. 6,1 (2014): 34. doi: https://doi.org/10.1186/1866-1955-6-34
Gazzellone MJ, Zhou X, Lionel AC, Uddin M, Thiruvahindrapuram B, Liang S, Sun C, Wang J, Zou M, Tammimies K, Walker S, Selvanayagam T, Wei J, Wang Z, Wu L, Scherer SW. Copy number variation in Han Chinese individuals with autism spectrum disorder. J Neurodev Disord. 2014;6(1):34. doi: 10.1186/1866-1955-6-34. Epub 2014 Aug 23. PMID: 25170348; PMCID: PMC4147384.
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Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.

Circulation. Genomic and precision medicine

Reuter MS, Chaturvedi RR, Jobling RK, Pellecchia G, Hamdan O, Sung WWL, Nalpathamkalam T, Attaluri P, Silversides CK, Wald RM, Marshall CR, Williams SG, Keavney BD, Thiruvahindrapuram B, Scherer SW, Bassett AS.
PMID: 34328347
Circ Genom Precis Med. 2021 Aug;14(4):e003410. doi: 10.1161/CIRCGEN.121.003410. Epub 2021 Jul 30.

BACKGROUND: Tetralogy of Fallot (TOF)-the most common cyanotic heart defect in newborns-has evidence of multiple genetic contributing factors. Identifying variants that are clinically relevant is essential to understand patient-specific disease susceptibility and outcomes and could contribute to delineating pathomechanisms.METHODS:...

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Reuter MS, Chaturvedi RR, Jobling RK, et al. Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. Circ Genom Precis Med. 2021;14(4):e003410doi: 10.1161/CIRCGEN.121.003410.
Reuter, M. S., Chaturvedi, R. R., Jobling, R. K., Pellecchia, G., Hamdan, O., Sung, W. W. L., Nalpathamkalam, T., Attaluri, P., Silversides, C. K., Wald, R. M., Marshall, C. R., Williams, S. G., Keavney, B. D., Thiruvahindrapuram, B., Scherer, S. W., & Bassett, A. S. (2021). Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. Circulation. Genomic and precision medicine, 14(4), e003410. https://doi.org/10.1161/CIRCGEN.121.003410
Reuter, Miriam S, et al. "Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot." Circulation. Genomic and precision medicine vol. 14,4 (2021): e003410. doi: https://doi.org/10.1161/CIRCGEN.121.003410
Reuter MS, Chaturvedi RR, Jobling RK, Pellecchia G, Hamdan O, Sung WWL, Nalpathamkalam T, Attaluri P, Silversides CK, Wald RM, Marshall CR, Williams SG, Keavney BD, Thiruvahindrapuram B, Scherer SW, Bassett AS. Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. Circ Genom Precis Med. 2021 Aug;14(4):e003410. doi: 10.1161/CIRCGEN.121.003410. Epub 2021 Jul 30. PMID: 34328347; PMCID: PMC8373675.
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